A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv938



Internal ID15552959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130636623..130668062hg38UCSC Ensembl
Outerchr12:131121168..131152607hg19UCSC Ensembl
Outerchr12:129687121..129718560hg18UCSC Ensembl
Outerchr12:129646048..129677487hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3811090
hg1911090
hg1811090
hg1711090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9845, nssv4058, nssv6543
SamplesNA18507, NA12156, NA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv938
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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